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Osteogenesis imperfecta

Gene: KIF5B

Green List (high evidence)
KIF5B (kinesin family member 5B)
EnsemblGeneIds (GRCh38): ENSG00000170759
EnsemblGeneIds (GRCh37): ENSG00000170759
OMIM: 602809, Gene2Phenotype
KIF5B is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 10 Dec 2025, 3:19 p.m. | Last Modified: 10 Dec 2025, 3:19 p.m.
Panel Version: 5.3
Created: 10 Dec 2025, 3:19 p.m.
Last Modified: 10 Dec 2025, 3:19 p.m.
Panel version: 5.3

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 23 Jul 2024, 2:56 p.m. | Last Modified: 23 Jul 2024, 2:56 p.m.
Panel Version: 4.7
PMID:37934770 reported the identification of three distinct de novo heterozygous KIF5B variants (p.Thr87Ile, p.Gly90Ala and p.Thr195Lys) in four unrelated individuals with osteogenesis imperfecta (OI). All these variants are present within the highly conserved kinesis motor domain. Functional studies in C. elegans, human cell lines and bone biopsy show impaired protein function and suggest dominant negative mechanism for variants. It is not clear what distinguishes OI phenotypes from other phenotypes for this gene reported in PMIDs: 35342932 and 36018820.
Sources: Literature
Created: 23 Jul 2024, 2:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
osteogenesis imperfecta, MONDO:0019019

Publications

Created: 23 Jul 2024, 2:55 p.m.

Panel version: 4.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • osteogenesis imperfecta, MONDO:0019019
Tags
gene-checked
OMIM
602809
Clinvar variants
Variants in KIF5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: KIF5B.

10 Dec 2025, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: KIF5B.

10 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to KIF5B. Source Expert Review Green was added to KIF5B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: kif5b has been classified as Amber List (Moderate Evidence).

23 Jul 2024, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: KIF5B was added gene: KIF5B was added to Osteogenesis imperfecta. Sources: Literature Q3_24_promote_green tags were added to gene: KIF5B. Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to 37934770 Phenotypes for gene: KIF5B were set to osteogenesis imperfecta, MONDO:0019019 Review for gene: KIF5B was set to GREEN